Sunday, November 22, 2015

Why Does My Child Not Cry?

The Human Genome project completed in 2008 allows for scientists all across the world to identify mutations and genetic makeups easier. Despite its greatness, scientists still find issues while trying to find patients who share these specific DNA requirements and that is why scientists insist on studying multiple patients with similar genetic mutations and symptoms in order to identify a new genetic disorder.
Recently eight patients symptoms and genetic mutations were compared and found to have all of the same "disease". Symptoms amongst these patients are liver disease, developmental delays and the oddest symptom is abnormal tear production. These are children that are being compared and it originally started out as their parents wondering why their children never cry. The children that were compared also had hypotonia (body becomes often limp like a rag doll) from a young age.As a parent experiencing a child that has hypotonia and does not cry is a nightmare, however it was even more of a nightmare when they took their children to multiple doctors and they simply turned them away saying the did not know what was happening. After an extensive amount of doctor visits across the world to foreign countries even, it turns out they do in fact have the same disease (NGLY1 deficiency). This deficiency is where there is a mutation in the NGLY1 gene in the body. It is important that scientists continue to compare multiple patients DNA with each other to continue to find diseases and mutations the human body can have.
I strongly believe that in order to diagnose patients, scientists must not limit themselves to only medical knowledge. With more digging on certain unexplained symptoms and mutations, more treatment approaches can be used and practiced and hopefully in the future (for example with NGLY1 deficiency) a successful treatment can be used to cure the disease.

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